Results 211 to 220 of about 338,804 (265)

Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador. [PDF]

NPJ Genom Med
Llargués-Sistac G, Bonjoch L, Muñoz J, Domínguez-Rovira X, Ocaña T, Alvarez-Mora MI, Badenas C, Esteve-Codina A, Reyes-Silva C, Jaramillo-Koupermann G, Rodrigo MT, López-Prades S, Cuatrecasas M, Castells A, Balaguer F, Moreira L, Fernandez G, Castellví-Bel S.   +17 more
europepmc   +1 more source

Systematic assessment of structural variant annotation tools for genomic interpretation. [PDF]

Life Sci Alliance
Liu X, Gu L, Hao C, Xu W, Leng F, Zhang P, Li W.   +6 more
europepmc   +1 more source

Graphical pangenomics-enabled characterization of structural variant impact on gene expression in Brassica napus. [PDF]

Theor Appl Genet
Yildiz G, Zanini SF, Weber S, Kopalli V, Kox T, Abbadi A, Snowdon RJ, Golicz AA.   +7 more
europepmc   +1 more source

Genetic and <i>in silico</i> functional characterization of a novel structural variant in the <i>PAH</i> gene by long-reads sequencing and structural modeling. [PDF]

Front Genet
Gallardo V, Gaete A, Maldonado J, Morales P, Peña A, Hamilton V, Faundes V, Santa María L.   +7 more
europepmc   +1 more source

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Rare Structural Variants

2015
In this chapter, we will briefly touch on the historical discoveries of large abnormalities in the structure of the human genome. It is now clear that more subtle structural variants are in fact ubiquitous and key to understanding the spectrum of risk for many human diseases.
Menachem Fromer, Shaun Purcell
openaire   +1 more source

AR Structural Variants and Prostate Cancer

2022
Therapeutic interventions for advanced castration-resistant prostate cancer (CRPC) are focused on inhibiting the androgen receptor (AR) through targeting of its C-terminal ligand binding domain (LBD). However, a significant subset of CRPC patients demonstrate primary resistance to androgen deprivation and anti-androgen therapies, suggesting that other ...
Laura, Cato, Maysoun, Shomali
openaire   +2 more sources

Karyotype Variants A: Chromosome Structural Variants

1992
A deficiency is the absence of a chromosome segment (of any size) that is present in the normal karyotype. An alternative term is deletion, which by some authors is used preferentially for the for the deficiency of a terminal segment of a chromosome.
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Dysfunctional Variants and the Structural Biology of the Serpins

1997
The development of our knowledge of the serpins illustrates the advantages of considering a protein superfamily as a whole. The serpins have all retained a common tertiary structure despite the individual evolution of diverse functions; for example, the homology of the plasma protease inhibitor α1-antitrypsin is closer to that of corticosteroid binding
R, Carrell, D, Lomas, P, Stein, J, Whisstock   +3 more
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Strategy for Structural Characterization of Haemoglobin Variants

Acta Haematologica, 2009
High-performance liquid chromatography allows one to perform effective and rapid separations on microquantities of material. The miniaturization of the techniques led to new approaches involving iso-electric focusing (IEF) of immobilized pH gradient IEF for haemoglobin preparation, successive enzymic hy-drolyses for isolating abnormal peptides and ...
V, Baudin-Chich, J, Rochette, H, Wajcman
openaire   +2 more sources